Pituitary hormone deficiency

Gene: DCHS2

I don't know

Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review. However, this may change if further DCHS2 variants are found in cases of pituitary stalk interruption syndrome.

Created: 15 Sep 2022, 2:38 p.m. | Last Modified: 15 Sep 2022, 2:38 p.m.

Panel Version: 2.24

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports three DCHS2 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants is digenic with a FAT2 variant and so its contribution to disease causation is uncertain. A Dchs2–/– mouse model has been examined and has defects in hypothalamic-pituitary development, but the phenotype is not consistent with the human condition.

Created: 15 Sep 2022, 2:36 p.m. | Last Modified: 15 Sep 2022, 2:36 p.m.

Panel Version: 2.23

Comment on phenotypes: This Mondo term is a general description and not specific to a conidition associated with DCHS2 variants.

Created: 15 Sep 2022, 1:35 p.m. | Last Modified: 15 Sep 2022, 1:35 p.m.

Panel Version: 2.18

Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Lodge EJ, Xekouki P, Silva TS, Kochi C, Longui CA, Faucz FR, Santambrogio A, Mills JL, Pankratz N, Lane J, Sosnowska D, Hodgson T, Patist AL, Francis-West P, Helmbacher F, Stratakis C, Andoniadou CL.JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310.

Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.

Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PSIS